Early structural changes in individuals at risk of familial Alzheimer's disease: a volumetry and magnetization transfer MR imaging study

J Neurol. 2009 Jun;256(6):925-32. doi: 10.1007/s00415-009-5044-3. Epub 2009 Mar 1.


Presenilin 1 (PS1) mutation carriers provide the opportunity to asses early features of neurodegeneration in familial Alzheimer's disease (AD). Gray matter (GM) regional volume loss and decrease of magnetization transfer ratio (MTR) consistent with microstructural changes have been reported in sporadic AD. We performed a regional volumetric and MTR analysis in carriers of PS1 mutations. Six non-demented mutated PS1 carriers (5 with memory deficits) and 14 healthy subjects were examined with high resolution T1-weighted images for volumetry and with T2* weighted images for MTR. Cortical GM volume and MTR values were derived. Compared to healthy controls, the GM volume of the left temporal and inferior parietal cortex and the MTR of the temporal cortex bilaterally were significantly decreased in PS1 gene carriers. In the latter, the temporal lobe MTR showed a trend for correlation with memory and executive function scores. Early neurodegeneration in non-demented subjects at risk for familial AD may be associated with atrophy and decreased MTR in the temporal cortex.

MeSH terms

  • Adult
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology*
  • Analysis of Variance
  • Brain / pathology*
  • Family
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation
  • Neuropsychological Tests
  • Organ Size
  • Parietal Lobe / pathology
  • Presenilin-1 / genetics*
  • Risk Factors
  • Temporal Lobe / pathology


  • Presenilin-1